V23I (p.Val23Ile) variant of TBK1 (Q9UHD2)
V23I (p.Val23Ile) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TBK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- rs1157085287
- ClinGen CA385593083
- ClinVar RCV003904041
- TOPMed rs1157085287
- Uncertain significance
- TBK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.40
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (TBK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available